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Links from MedGen

Items: 1 to 100 of 1326

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT172
Deletion
(splice acceptor variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely pathogenic
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Deletion
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
(L292fs)
Deletion
(frameshift variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Deletion
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Deletion
(splice acceptor variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely pathogenic
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
(A1210fs +1 more)
Duplication
(frameshift variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(splice acceptor variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely pathogenic
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806174
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(splice acceptor variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely pathogenic
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
(E327*)
Duplication
(nonsense)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806174
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806174
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Duplication
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806174
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
(Q1166* +1 more)
Single nucleotide variant
(nonsense)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806174
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
(E715* +1 more)
Single nucleotide variant
(nonsense)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172, LOC126806173
(S1305fs +1 more)
Microsatellite
(frameshift variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172
(Y124F)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806174
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
(D743G +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
(C409R)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(intron variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely pathogenic
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
(T774R +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172
Single nucleotide variant
(splice acceptor variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely pathogenic
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(splice acceptor variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely pathogenic
IFT172
(R367S)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
(R658* +1 more)
Single nucleotide variant
(nonsense)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172
Single nucleotide variant
(splice donor variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely pathogenic
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806174
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
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